PDHB-related PDHC deficiency

Type

Disease
External link(s)
Gene
- PDHB / Pyruvate Dehydrogenase (Lipoamide) Beta
  3p14.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyruvate dehydrogenase E1 component subunit beta, mitochondrial
Multimer
- Pyruvate dehydrogenase complex
Pathway
- Pyruvate metabolism and Krebs cycle
Parent entry
- Pyruvate dehydrogenase complex deficiency